A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv526899



Internal ID15454192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:51636474..51639096hg38UCSC Ensembl
Innerchr14:52103192..52105814hg19UCSC Ensembl
Innerchr14:51172942..51175564hg18UCSC Ensembl
Innerchr14:51172942..51175564hg17UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg382623
hg192623
hg182623
hg172623
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv703258
Samples
Known GenesFRMD6
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv526899
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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